Novel colon cancer susceptibility variants identified from a genome‐wide association study in African Americans

Autor: Lynne R. Wilkens, Jane C. Figueiredo, Fredrick R. Schumacher, Mala Pande, Christopher A. Haiman, Krista A. Zanetti, Robert W. Haile, Ikuko Kato, Lisa B. Signorello, Sonja I. Berndt, David V. Conti, Temitope O. Keku, Terrilea Burnett, Polly A. Newcomb, Hansong Wang, Daniel O. Stram, Stephanie L. Schmit, Dee W. West, Loic Le Marchand, Curtis C. Harris, Julie R. Palmer, William J. Blot, David Van Den Berg
Rok vydání: 2017
Předmět:
Zdroj: International Journal of Cancer. 140:2728-2733
ISSN: 1097-0215
0020-7136
DOI: 10.1002/ijc.30687
Popis: Genome-wide association studies (GWAS) in ethnic/racial minority populations can help to fine-map previously identified risk regions or discover new risk loci because of the genetic diversity in these populations. We conducted a GWAS of colorectal cancer (CRC) in 6,597 African Americans (1,894 cases and 4,703 controls) (Stage 1) and followed up the most promising markers in a replication set of 2,041 participants of African descent (891 cases and 1,150 controls) (Stage 2). We identified a novel variant, rs56848936 in the gene SYMPK at 19q13.3, associated with colon cancer risk (odds ratio 0.61 for the risk allele G, p = 2.4 × 10-8 ). The frequency of the G allele was 0.06 in African Americans, compared to
Databáze: OpenAIRE